DisGeNET - a database of gene-disease associations

List of associated variants

Orbital separation excessive, C0020534

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1555932766	USP9X	0.882	0.080	X	41210540	stop gained	C/T	snv			9
rs1213930919	TTN-AS1 ; TTN	0.882	0.120	2	178577785	stop gained	G/A	snv			9
rs369634007	TMEM87B	0.882	0.080	2	112098688	missense variant	A/G	snv	1.6E-05	2.1E-05	10
rs1553630457	TGFBR2	0.882	0.240	3	30674231	missense variant	T/C	snv			8
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs1557194525	TAZ	1.000	0.120	X	154420961	frameshift variant	C/-	del			3
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	26
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs1555380716	SLC12A6	0.882	0.120	15	34255385	frameshift variant	-/C	delins			5
rs1559193213	SCN1A-AS1 ; SCN1A ; LOC102724058	0.807	0.160	2	166036149	frameshift variant	-/G	delins			11
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14
rs869312687	RIT1	0.925	0.080	1	155910695	missense variant	T/G	snv			8
rs74799832	RET	0.662	0.280	10	43121968	missense variant	T/C	snv	4.0E-06		33
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs121918467	PTPN11	0.807	0.280	12	112486482	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		23
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			14
rs397507547	PTPN11	0.752	0.280	12	112489086	missense variant	A/G	snv	4.0E-06		14
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			13
rs397507549	PTPN11	0.742	0.240	12	112489104	missense variant	C/A;G	snv			13
rs121918470	PTPN11	0.790	0.160	12	112489105	missense variant	A/C;G	snv	4.0E-06		10